Disease Prevents Baby From Being Hugged

Most mothers don't worry about hugging their babies, But Jenna Buswell, a Washington state mother of two, does worry about such close contact.

Buswell's bundle of joy, her 7-month-old son Casen, has a rare vascular condition that causes his blood vessels, skin and muscles to harden, and it will only worsen as he gets older. "It's progressive, so once the skin starts to harden and thicken it becomes extremely painful," Buswell told ABCNews.com. "Right now, he is so, so little that we're noticing that to touch there are areas that are sensitive so we have to be careful about how we place him."

The condition, so rare that Casen is only one of 14 known cases in the world, is called glomuvenous malformations plaque type and is caused by a missing glomulin gene. If left untreated, it could ultimately lead to heart failure, Buswell said.

Lesions were immediately noticeable on Casen's chest when he was born, but it wasn't until the Buswells saw a geneticist nine weeks later that they began to get answers.
"The geneticist pieced it together and on a whim notified a few other doctors in the U.S. ... and then at that point notified the husband and wife doctor team in Belgium, who identified the gene Casen is missing," Buswell said.

Dr. Miikka Vikkula and his wife, Dr. Laurence Boon, are the only doctors in the world who have established a treatment for the condition, Buswell said. The couple practices in Brussels, 5,000 miles from the Buswell's home in Puyallup, Wash.

The Buswells, who also have a 3-year-old daughter, Cora, made the trip to Belgium this past summer to meet with Vikkula and Boon. Casen will need monthly laser treatments for up to three years, which will help keep his vessels from hardening and it's hoped give him a shot at living a normal life.
Buswell was hoping to begin the treatments when Casen turned 18 months, but his labored breathing, another effect of GVM, meant they couldn't wait much longer.

At a doctor's appointment on Monday, Casen took 88 to 92 breaths per minute. The average baby his age takes 25 to 40. "Our doctors in Belgium are the only doctors we've seen who have been able to give us a clearer picture about what we need to do to treat him," Buswell said. "We're struggling with how are we going to provide that for him."

The family's Puyallup, Wash., community wants to make sure Buswells don't have to worry about paying for the treatments. Strangers have donated thousands of dollars and held fundraisers to help cover the estimated hundreds of thousands of dollars in medical bills. A local drag-racing enthusiast was so touched by Casen's story that he said he planned to sell his beloved 1957 Chevy Bel-Air and donate the proceeds to the Buswell family.

"It gives us hope we're going to be able to do whatever it is we need to do," Buswell said.
Buswell, a special education teacher, and her husband, C.J., a contract administrator at a construction company, are now looking into a move to Belgium, a place where neither has ties, to cut down on the costly commute they'd otherwise face going from Washington to Brussels once a month.
Stefanie Putkowski, a a registered nurse who works with the National Organization for Rare Disorders, said it's not uncommon for families to move thousands of miles to get treatment for a rare disease, but it's usually within the U.S.

"It's remarkable this family is considering moving to Belgium, but it's not at all inconsistent with the types of things we see all the time," Putkowski said. "Once there is a treatment, families will go to any length to obtain treatment for their child." And for the smiling, wide-eyed 7-month-old, his parents are willing to do just that.

"My hope is he is able to do all the things little boys should do. Run around, ride his bike, play with his sister," Buswell said. "And grow up and live a fairly normal life."